Results 151 to 160 of about 29,182 (218)

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease. [PDF]

J Peripher Nerv Syst
Qaiser F, McHugh J, Mullins G, Farrell M, Shakerdi L, Byrne JO, Murphy SM.   +6 more
europepmc   +1 more source

Abnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report. [PDF]

BMC Neurol
Kodal LS, Dysgaard T, Witting N.
europepmc   +1 more source

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review. [PDF]

Iran J Public Health
Kavoosi S, Karimi Z, Moghaddam NA, Ashtari F.   +3 more
europepmc   +1 more source

Evaluation of the Metabolomics Profile in Charcot-Marie-Tooth (CMT) Patients: Novel Potential Biomarkers. [PDF]

Metabolites
Murgia F, Cadeddu M, Cadeddu M, Frau J, Coghe G, Lorena L, Vannelli A, Murru MR, Spada M, Noto A, Atzori L, Cocco E.   +11 more
europepmc   +1 more source

Statistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease. [PDF]

Foot Ankle Int
Requist MR, Peterson AC, Beals TC, Chrea BL, Lenz AL.   +4 more
europepmc   +1 more source

Revision total knee arthroplasty with Charcot-Marie-Tooth disease - a case report. [PDF]

Int J Surg Case Rep
Mahlouly J, Wegrzyn J, Guyen O, Dietrich G, Meylan A, Antoniadis A.   +5 more
europepmc   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease. [PDF]

Ann Neurol
Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F.   +23 more
europepmc   +1 more source

Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models. [PDF]

Stem Cell Reports
Rizzuti M, Pagliari E, D'Agostino M, Ottoboni L, Parente V, Comi GP, Corti S, Rizzo F, Abati E.   +8 more
europepmc   +1 more source

Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death. [PDF]

J Cell Sci
Joaquim M, Bulimaga MB, Mohn MA, Plouzennec S, Osinski L, Altin S, Mahabir E, Chevrollier A, Escobar-Henriques M.   +8 more
europepmc   +1 more source